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Lethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1.

BMC veterinary research - 13 Jun 2016

Agerholm Jørgen S, Menzi Fiona, McEvoy Fintan J, Jagannathan Vidhya, Drögemüller Cord

Abstract excerpt

BACKGROUND: Lethal chondrodysplasia (bulldog syndrome) is a well-known congenital syndrome in cattle and occurs sporadically in many breeds. In 2015, it was noticed that about 12% of the offspring of the phenotypically normal Danish Holstein sire VH Cadiz Captivo showed chondrodysplasia resembling previously reported bulldog calves. Pedigree analysis of affected calves did not display obvious inbreeding to a...

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Alternative Splicing
Cattle
Cattle Diseases
Collagen Type II
Dwarfism

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PMID: 27296271
DOI: 10.1186/s12917-016-0739-z
PMCID: PMC4906884

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